Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier España
2025-01-01
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| Series: | Neurología (English Edition) |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S217358082500001X |
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| author | L. Silva-Hernández B. Cabal-Paz J. Jiménez-Almonacid E. González-Vioque J. Bohm |
| author_facet | L. Silva-Hernández B. Cabal-Paz J. Jiménez-Almonacid E. González-Vioque J. Bohm |
| author_sort | L. Silva-Hernández |
| collection | DOAJ |
| format | Article |
| id | doaj-art-9ca08e25529b46ac86168084b93975cf |
| institution | Kabale University |
| issn | 2173-5808 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier España |
| record_format | Article |
| series | Neurología (English Edition) |
| spelling | doaj-art-9ca08e25529b46ac86168084b93975cf2025-01-26T05:03:47ZengElsevier EspañaNeurología (English Edition)2173-58082025-01-014018991Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndromeL. Silva-Hernández0B. Cabal-Paz1J. Jiménez-Almonacid2E. González-Vioque3J. Bohm4Coordinador Grupo de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Puerta de Hierro Majadahonda, Majadahonda, Madrid, Spain; Corresponding author.Servicio de Neurología, Hospital Puerta de Hierro Majadahonda, Majadahonda, Madrid, SpainServicio de Anatomía Patológica, Hospital 12 de Octubre, Madrid, SpainServicio de Bioquímica, Hospital Puerta de Hierro Majadahonda, Majadahonda, Madrid, SpainInserm Research Director IGBMC, Strasbourg, Francehttp://www.sciencedirect.com/science/article/pii/S217358082500001X |
| spellingShingle | L. Silva-Hernández B. Cabal-Paz J. Jiménez-Almonacid E. González-Vioque J. Bohm Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome Neurología (English Edition) |
| title | Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome |
| title_full | Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome |
| title_fullStr | Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome |
| title_full_unstemmed | Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome |
| title_short | Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome |
| title_sort | clinical variability in stim1 variant c 262a g associated with stormorken syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S217358082500001X |
| work_keys_str_mv | AT lsilvahernandez clinicalvariabilityinstim1variantc262agassociatedwithstormorkensyndrome AT bcabalpaz clinicalvariabilityinstim1variantc262agassociatedwithstormorkensyndrome AT jjimenezalmonacid clinicalvariabilityinstim1variantc262agassociatedwithstormorkensyndrome AT egonzalezvioque clinicalvariabilityinstim1variantc262agassociatedwithstormorkensyndrome AT jbohm clinicalvariabilityinstim1variantc262agassociatedwithstormorkensyndrome |